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1 . Academic Journal
A novel splicing mutation in the ABCA1 gene, causing Tangier disease and familial HDL deficiency in a large family.
저자
by
Maranghi, Marianna
;
Truglio, Gessica
;
Gallo, Antonio
;
Grieco, Elvira
;
Verrienti, Antonella
, et al.
소스
Biochemical & Biophysical Research Communications
. Jan2019, Vol. 508 Issue 2, p487-493. 7p.
Full Text (ScienceDirect)
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7 . Academic Journal
PCDH19‐related epilepsy is associated with a broad neurodevelopmental spectrum
저자
by
Smith, Lacey
;
Singhal, Nilika
;
El Achkar, Christelle M.
;
Truglio, Gessica
;
Rosen Sheidley, Beth
, et al.
소스
Epilepsia
. Mar 01, 2018 59(3):679-689
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7 . Academic Journal
A Model Program for Translational Medicine in Epilepsy Genetics.
저자
by
Smith, Lacey A.
;
Ullmann, Jeremy F. P.
;
Olson, Heather E.
;
Achkar, Christelle M. El
;
Truglio, Gessica
, et al.
소스
Journal of Child Neurology
. Mar2017, Vol. 32 Issue 4, p429-436. 8p.
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7 . Periodical
Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly
저자
by
Braun, Daniela A
;
Rao, Jia
;
Mollet, Geraldine
;
Schapiro, David
;
Daugeron, Marie-Claire
, et al.
소스
Nature Genetics; October 2017, Vol. 49 Issue: 10 p1529-1538, 10p
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7 . Periodical
The Impact on Genetic Testing of Mutational Patterns of CFTRGene in Different Clinical Macrocategories of Cystic Fibrosis
저자
by
Lucarelli, Marco
;
Bruno, Sabina M.
;
Pierandrei, Silvia
;
Ferraguti, Giampiero
;
Testino, Giancarlo
, et al.
소스
The Journal of Molecular Diagnostics; July 2016, Vol. 18 Issue: 4 p554-565, 12p
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7 . Academic Journal
Atherogenic Dyslipidemia in Children: Evaluation of Clinical, Biochemical and Genetic Aspects.
저자
by
Montali, Anna
;
Truglio, Gessica
;
Martino, Francesco
;
Ceci, Fabrizio
;
Ferraguti, Giampiero
, et al.
소스
PLoS ONE
. Apr2015, Vol. 10 Issue 4, p1-13. 13p.
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7 . Academic Journal
DNA Methylation Patterns Correlate with the Expression of SCNN1A , SCNN1B , and SCNN1G (Epithelial Sodium Channel, ENaC) Genes.
저자
by
Pierandrei, Silvia
;
Truglio, Gessica
;
Ceci, Fabrizio
;
Del Porto, Paola
;
Bruno, Sabina Maria
, et al.
소스
International Journal of Molecular Sciences
. Apr2021, Vol. 22 Issue 7, p3754. 1p.
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7 . Academic Journal
The Impact on Genetic Testing of Mutational Patterns of CFTR Gene in Different Clinical Macrocategories of Cystic Fibrosis
저자
by
Lucarelli, Marco
;
Bruno, Sabina M.
;
Pierandrei, Silvia
;
Ferraguti, Giampiero
;
Testino, Giancarlo
, et al.
소스
JOURNAL OF MOLECULAR DIAGNOSTICS
; JUL 2016, 18 4, p554-p565, 12p.
Full Text (ScienceDirect)
Full Text (Clinical Key)
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Scopus
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7 .
DISLIPIDEMIE ATEROGENE: GENI COINVOLTI NELLA SINDROME DA BASSE HDL
저자
by
Truglio, Gessica
;
Arca, Marcello
.
소스
Open Access (OpenAIRE)
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4 .
Analisi mutazionale dei geni ApoA1 e LPL nella dislipidemia aterogena in età pediatrica
저자
by
Truglio, Gessica
;
Lucarelli, Marco
;
Montali, Anna
;
Arca, Marcello
;
Strom, Roberto
.
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